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NEUROMUSCULAR + SKELETAL DISORDERS ¹

Familial spine disorders Neurogenic Osteoarthropathies   Ulcero-mutilation Neuromuscular + 1° Skeletal disorders Neuromuscular + Contractures Rigid spine syndromes	Lloyd; J Nervous & Mental Disease 1894 Neurogenic Osteoarthropathy: Syphilis
Neuromuscular + 1° Skeletal disorders Myopathy Hereditary Progressive Diaphyseal Dysplasia (Camurati-Engelmann) Epiphyseal dysplasia (EDM3) (COL9A3; COL9A2; COMP) Uruguay Facio-Cardio-Musculo-Skeletal Syndrome Myhre syndrome Myotonic dystrophy Flier's syndrome Camera-Marugo-Cohen Syndrome Paget disease + IBM (VCP; HNRNPA2B1; HNRNPA1) Scheie syndrome Tel Hashomer camptodactyly syndrome Bone fragility + Myopathy Acquired Congenital hypothyroidism Vitamin D deficiency Neuropathy CMT 4C Goldberg-Shprintzen Motor neuronopathy with cataracts and skeletal abnormalities Myeloma Neurofibromatosis Refsum Schwartz-Jampel Other Adolescent idiopathic scoliosis : Chromosome 19p13.3; Dominant
Neurogenic Osteoarthropathies (Charcot's joints) Definition Progressive, destructive arthropathy Location: Region of sensory loss Causes: Repeated trauma to anesthetic limb Associated disorders Nerve disorders Infections Leprosy: MP & PIP joints Tabes dorsalis: Knee Amyloidosis Diabetic neuropathy: Most common cause; Foot Acromegaly Alcohol-related neuropathy (Rare) Hereditary neuropathies Local nerve injuries Spinal disorders Syringomyelia: Elbow Injuries Chronic disorders: Multiple sclerosis Congenital: Spina bifida, Meningomyelocele     Rule out: Septic arthritis	Neuropathic ankle Osteoarthritis: Talonavicular & naviculocuneiform Fragmentation of navicular bone Soft tissue swelling around the ankle
Neuropathic fingers Charcot

Uruguay Facio-Cardio-Musculo-Skeletal Syndrome ²

• Epidemiology: 1 family
• Genetics
  • Mutation: Splice site variant (c.502-2A>G)
  • Allelic disorders
• Clinical
  • Skeletal
    • Skull: Brachyturricephaly
    • Face: Pugilistic
    • Hands: Broad
    • Feet: Wide; Pes cavus progressiv; Toe dislocation
    • Hip dislocation, Congenital
    • Scoliosis
  • Muscle
    • Hypertrophy
    • Waddling gait
  • Cardiomyopathy
    • Hypertrophic
    • Sudden death
• Laboratory
  • Serum CK: Mild elevation or normal
  • Muscle biopsy: No abnormalities identified
• Female heterozygote (Mother): Mild syndrome
  • Elongated face: Prominent maxilla, Everted lips
  • Muffled voice.
  • Muscle development: Prominent; Little subcutaneous fat

Progressive Diaphyseal Dysplasia (Camurati-Engelmann)

• Onset age; Infancy to 30 years
• Discomfort: Limb pain; Fatiguability
• Myopathy³
  • Weakness
  • Muscle atrophy
  • EMG: Myopathic; Small, short action potentials
  • Serum CK & Aldolase: Elevated in 40%
  • Muscle biopsy: Non-specific changes
  • Small muscle fibers: Occasional
  • Basement membrane around small vessels: Thickened; Multilaminated
  • Some muscle fibers with accumulations of mitochondria (by EM)
• Skin
  • Fusiform lower leg swelling
  • Raynaud phenomenon
  • Nail-fold infarcts: Multiple
• Systemic
  • Hypogonadism
  • Hepatosplenomegaly
• Skeletal
  • Bone pain
  • Scoliosis
  • Lumbar hyperlordosis
  • Diaphyseal dysplasia: Osteosclerosis & Hyperostosis
• Treatment for pain: Corticosteroids ³

Scheie Syndrome (Mucopolysaccharidosis Type Is; MPS Is) ⁴

• Epidemiology: 1;500,000 newborns
• Genetics
  • Mutations: Stop or Splice
  • Common mutations: W402X, Q70X
  • Allelic disorders: Hurler syndromes
    • MPS Ih
    • MPS Ih/s
  • Component of newborn screening panels
• IDUA protein
  • Hydrolyzes terminal α-L-iduronic acid residues of Dermatan sulfate & Heparan sulfate (Glycosaminoglycans)
  • Mutation effects: Glucosaminoglycans (GAGs) accumulate within lysosomes
• Clinical
  • Systemic
    • Hepatosplenomegaly
    • Joint stiffness
    • Corneal clouding
    • Cardiac
      • Heart valve disorders: Thickening
      • Cardiomyopathy
      • Aortic stenosis & regurgitation
  • Myopathy ⁴
    • Clinical
      • Onset age: Teens
      • Exercise intolerance
      • Weakness: Mild or None
    • Laboratory
      • Urine: Increased heparan sulfate & dermatan sulfate
      • EMG: Myopathic or Normal
    • Muscle pathology: PAS positive fibroblasts between muscle fibers
  • Peripheral nerve
    • Carpal tunnel syndrome
  • Myelopathy: Pachymeningitis cervicalis
    • Clinical
      • Onset
        • Age: Adult
        • May occur during enzyme replacement therapy
      • Location of lesion: Cervical
      • Paresthesias: Hands & Feet
      • Weakness: Legs
      • Course: Progressive
      • Treatment: Cervical decompression
    • Pathology: Mucopolysaccharide accumulation in soft tissues
  • Treatments
    • Enzyme replacement
    • Bone marrow transplantation